-—"mm^t^^jK
I BAO CAO KHOA HOC
Dac diem lam sang va dieu tri dpng kinh tr^
so sinh, nhu nhi
PGS.TS. Ninh Thi (ng Benh vien Nhi Tning uang
TdMTAT
Co giat, OK thai ky so sinh bao gom: DK so sinh gia dinh lanh tfnh (BFNE); Benh nao giat co nhu nhi (EME); Hpi chiing Ohtahara. Thai ky tre nhu nhi (ttr Ithang den 3 tuoi): Co giat cgc bo bign the (migrating); H.C West, H.C Dravct; BK tti nho lanh tinh, OK co tinh gia dinh; B^nh nao giat co khong tien trien, OK giat cotien trien; H.C Doose. DKtre so sinh va nhu nhi la nhom b?nh rSi l o j n nao rSlda dang xuat hi?n 6 giai doan nao dang phat trien cho nen ve dieu trj rat khd khan, khSng thuoc «S suy thoSi su phat trien tinh than van dpng, h i n h vi chiem ty le cao. B4i bao nhSm mo tJ djc diem ISm sang chinh va dieu trj OK tre nhu nhi.
DATVANDE
Co giat, DK tlidi ky so sinh bao gom: DK sd smh gia dinh lanh tinh (BFNE); Benh nao giat cO nliu nhi (EME); Hoi chiing Ohtahara Thdi ky tre nhu nhi ( t i 1 thing den 3 hidi): Co giat cue bo bie-n the (migrating), H.C West, H.C Drivet;
DK tre nho lanh tinh, DK co Hnh gia dinh; Benh nao giiit CO khong tien tnen, DK giit co tien trien;
H.C Doose Benh nao giy dpng kinh (DK) la hen chiing dong Idnh dilflc chii y til niim 1970, (1.2) bao cao ciia Hiep hoi chong DK the' gidi nim 2001 nhin manh: la DKpha huy i, giai doan riit .son, ciia cuoc dill Kl tuoi so smh (Engel,2001 2006, Berg et a]., 2010) (2) Hoi chflng DK khang
38 THAN KINH HOC VIETNAM SO17-QUYIII/2016
thu6c do benh nao chiem 30- 40% iii: bi DK ( N m h Thi Ong, 2008(15); Elinor B.M. 2009),
Kraner M. Tel. Aviv 2010 nghita cilu dich If trong 20 n.im: H.C. West chiem 9%, myoclonus 2,2%, H.C. Lennox Gastaut 1,5%, H.C. Lauda- Klefrier 1,5%, DK giat CO Ohtahara 0,2%, trang thai DK cl thi ngu cham 0,2%. Bai bao nham rao ta dac d i l m lam sang chinh va dilu trj DK tre stf sinh va tre nhii nhi.
Khai n i l m v l DK giat CO: Co giat co la dpng tac til dong, ngan, dot ngpt, gay di chuyen vi tri sau do lai quay trcf lai vi tri ban dau. Khai ni?m CO cd tile hien tilcing co co dildng tinh, cd chiim hoat dong t r t a d i t a cd do; dc che hoat dpng co CO tdc giat CO am tinh, dien cd dd binh thudng
Website hoithankinhhocvietnam com vn
1 NiiihgbltattlWngkhdngphaigiJtconhUningsai CO; fliich vjn dpng don gifa; ciorea (miia giat);
Ij run; lo^n truong Iuc cO; co fliat cOj cfl doi^ chu I k^ttonggiacngu.Gi4tcflc6flildflnd6iihaykft 1 li?l>.Gi}tcodondOcnhUgiatcosinhly:giatinmh
khi ngu, ndciCachOichunggiat CO di ttuyta vi giit CO loan truong h^c "paramyoclonus muldplex";
. gi4tcolinhtmhdttec6nbu,hyperplenathlcd . flnh gia dinh a tt* con bli, benh 1^ cua tmc thfa;
giit CO tiy sting. Giit CO kit h(J: giat CO do btah nio sau fliilu oxy; btah he fliong; binh chuyta hda, do ngO d^c, nhitoi tting flifa kinh; tdn
BK tti so smh va nha nhi: la nhom btah rSi '^ losn nao rdt da dang radt hita cr giai doan nao dang phit ttita dio nta boat d6ng dita nao ddo
^ thigiflacdccOnhayttongconcfDKkhongrocin . nguyta c6 ^ n ^ cho chfa dofa dong gdp vio
ddnh ga hdnh vi, nhin fliUc vi vin d^ng chim dfa hay fliodi lui
I Die OlfMUM SANG VABlfU TRI I Giai do^n stf sinli
Co giit sd smh linh tmh xuit hita vao ngay fliU nam sau khi tti ra ddi, trin lam sfag hilu hita cdc con nm gijt cO, khdng hao giO dudt dang tfag tniong lUc CO, thudng xult hita giit bfa chin, run chfa, giit tay, con c6 khuynh hudng Ian tda tU niia thfa m^t bta sang bta ddi dita, klo dai 20-30 gidy. Cd flilkhdng dilu ttj hoic cho Phenolbafliital 1 -2mg/kg/ngiy.Btahc6titaIupngt6t
BInhnioDKvdi dita nao d6(DND)ilc chi kjch phit 14 nhdm rdi loan DK da dang xudt hiln tu thfag diu tita cda so sinh cd die dilm li co giit cijc b* hay tofa flil, cfln ttudng lUc, co fliit gdp hay giit cO. Cxi flilt tfag tiUOng lUc co ddi khi khd phfa bi|t vdi giit co nlu khdng cd BNB
video chat lUOng cao.
Btah nio do fliita oxy fliita mdu va cd DND lie chi kich phdt Iam sfag cd trong hai h^i chitag:
Hdi chitagOhtahani(l976),(l8) hlnh nao giit ca sd!ni(EME)(AicardivaCSjuaeres,1978);ttiynhita cd so sinh CO gijii DND ed iSc chi Mch phdt nhung Iam sang chui dli tita chufa ciia hai hdi chdng ttta (Schhmibeiger,1992). Btah nao DK vdi dita nao dd Uc che boat ddng hoac sdng dim flie rit flilp va phdng luc kjch phdt ddng flii hoac mat cfa xitog gifia hai bfa can (Lomboroso, 1990) (13).
Hdi cfanfng Ohtahara cd die diem xuat hita rdt sdm vdi etta co that tfag tnidng lUc cd vd eo giat cpc bp vi bilm cp giit ed chuyin dang.
Ngupc VCH DK giit cd tifa tiiln, chuyin dang fliinh CO giat cpc bp, ddi khi xult hiln co fliit ttTldng Iuc Hdi chUng Ohtahara giai ddan BND Uc chi Mch phit fliudng ngin va fliudng mat cfa xUng gifla hai bfa clu sd sdnh vdi benh nao giit cd (EIHE) chap Uc ehi Mch phdt tdn tai liu. VI nguyin nhfa hai hpi chUng niy cd khic nhau: 0 H.C. Ohtahara do bdt fliudng clu tnic hi flifa Mnh, dj tat bam sinh, khdng cd tinh chat gia dmh ngupc Iji EME nguyen nhfa dp chuyfa hda nhu benh tfag dUOng miu khdng cd cetnn (nonketotic hyperglycinemia); phu fliudc phosphatpyridoxal. Nhilu ttudng hpp EME cd tinh chit gia dinh di ttuyin fa nhilm sac till fliUOng vi cfa nguyta fa (Dalla Bemadma et al., 1983; Aicardi,1992). Nhilu loai fliudc dilu tti xong khdng hifa qui, phau fliult DK cd hilu quidnhdmloansfavdnao.Vigabatrin (Sabril) cd hilu qui nhung khdng hpp vdi dang giit co.
Tita lupng rdt xlu, chfai phat bien tmh tiifa vin dpng ning, DK khd bi, 50% til vong sdm, cdn Iai chuyin flianh R C West, mudn hdn la H.C.LGS (Clarke 1987).
Website:hoithanklnhhpov(elnam.com.vn S6 17-QU^II^2016 inOHKIHHOCVirrMAM l 39
^ BAO CAO KHOA HOC
Nghien ciiu tai Benh \ i e n Nhi T r u n g u'dng (2006-2007): Gom 11 benh nhan (BN) dudc chan d o i n Ohtahara dieu tn noi trii: N a m / nH la 36%/64%. Co 5 BN co that cilng tnitfng Iiic mot nhip, Ve nguyen nhan' 2 BN co cuon nao nho, thiiy thai dilcfng kem phat tnen, 3 BN vo nao, chat trang nao kem myehn hoa, 2 BN thieu san the trai, 4 BN khong ro can nguyen, phai ching co bat thifdng ven gene Tac gia Kato M, 2009 (10) 4 / 5 BN khong co di tat nao tren MRI da phat hien dot bien gene STXBPl protein (syntaxin bindmg protein l ) c6 chiic nang dieu hoa cac chat dan truyen trong synap va dieu hoa bai tiet chat than kinh tmng gian (2). Ve dieu tn: ACTH co tac dung d thcfi diem co H,C.
West nhifng cung khong tac dung trong H.C. DK Ohtahara, cac thuoc Clonazepam, Nitrazepam, Valproate va pyridoxal phosphate cung kliong cat diroc con giat( I) Cho nen 11 BN ciia chiing toi dieu tn chi giam cOn chii' kliong cat diidc cOn hoan toan(l4). Tom lai: dieu tn chi giam cOn duoc 54,5% BN. Cac BN deu cham phat tnen tinh than van dong nang (14).
DKTRE NHU NHI
DK nhu nhi v6i chuyen dang co giat cue bo' gap it, la benh nao kho tn, khong ro can nguyen (Coppola, 1995) (5); D N D nhieu nhon, gai nhon, benh tien tnen, thoai tnen ve tinh than van dong (Coppola, 2009). Khcrt benh tuidc 7 thang tudi, CO giat cue bp van dong thay doi d cac vi tri khac nhau va toan the hoa. Theo thdi gian co giat ngay cang tang thinh tiing chuoi co giat, hau nhu' ht^n tuc. Lam sang cdn co giaf cdn bat dau qu.,y mat, quay dau sang ben, mng giat mat sang ngang giat nhan cau, mng giat cue bo, dong tac nhai mom, roi loan than kmh thUc vat, tim, cdn
40 THANKINHHOCWETNAM SO 17 QUY 111/201
ngifng the* ngan, hiem co giat cd, cdn co that hiu n h u loai tni. Cdn co giat keo dai vai phiit ho|c rat nhanh khong kip nhan biet, co the giat thanh chuoi nhieu lan trong ngay, vai ngay trong moi tuan. D N D tren nen song ca ban la song cham hoat dong nhon khu tni, da nhon d nhieu vi tn' tren nao, khong co hoat dong kich phat haylojm nhip dien die cao. Nguyen nhan khong biet, gan day CO bao cao ve dot bien moi ciia gene SCNIA (Freilich; 2011). Tien liidng rat xau, v6i nao be tien tn^n, cham phat trien tmh than van dons nang, giam tnidng lUc cd. Tien lildng tot hdn niijt klii khong che dUdc cdn co giat (Okuda 2000;
Hmaimess 2006).
HOI C H D N G WEST
Hien tupng co giat thanh chudi, DND Ion nhip cao dien the, thoai t r i t a tinh thin v|r dpng. 90% bat dau tit 3-6 thing, BN xuat hijn sau 12 t h i n g hiem, hau n h u chuyen thanh H.C Lennox - Gastaut ( LGS). Con giat co co tifp sau la COn trddng Inc.
Ty le mac 0,16-0,43/1000 tre sinh (Cowan
& Hudson, 1991, Rantale & Putkonen, 1999;
Matsuo et al., 2001; Rukonen, 2009). Tre trii mac b t a h n h i t a hfln tre gai. H.C West phan loii la khdng co nguyta nhan, can nguyen an, tri?u chdng (Panayiotopoulos, 2007). Da sd H.C West tneu chdng d t a 75%- 80%. Nguyen nhin cau tnic cd the mdt 6 hay nhilu 6, mdt ben hay ca hai ben; nguyen nhan thdi ky chu sinh, chuyen hda benh ty the rat it. 3-5% la can nguyen in, 17- 20% khong biet can nguyen. H d i chiing West do lien ket vdi nhiem sac the X cd cham phil t n e n tinh than van d d n g td viia hoac nang, co van de ve t h i n kinh d o dot b i l n gene ARK (Claes et al, 1997; S t r o m m e et a l , 2002) vi
) Website tioithankinhhocvietnam com vn
CDKL5 (cydm-dependent kinase-like S) btoh bSt diu tit 3 fliang Tdi con CO fliat Cling, hoc kem, Mk^(Scalaetal,200S,-BahiBuisson etal., 2008).
L3ms4ng cdn CO thSt thudng can Xling, vdi CO fliit gip, ilSn, hay ca haL Xuat h i ^ flianh chudi, nhi&i ddt ctm trong ngiy, khi mdi ngu diy hoac trong bHa an. Co that nhanh CO vai, mSt quay sang mdt bSn. Co tbat khdng dac hi$u thudng d benh nhin nhdm t r i ^ chiiiig va nhdm can nguyen an.
Co giit cijc bd, khdng can aing hai bte, tnidc co fliit gip hay sau dd. BND ngoai cdn dac hieu la loan nhlp cao diSn ihi sdng chjm dien flij cao xen ke v a nhon, gai nhpn diSn All cao ddi khi cd chap lie chi kich phat ci hai ban ciu, kich phat cua nhpn vi sdng.
Chin doin: diia tren benh sd, trtic tiip nhin Ally cdn CO giat cimg vdi fliay ddi DND. Ddi khi chin ddin nhim vdi phin xa Moro, giat mmh ho^c gi^t Cd linh thih cda tr^ nhu nhi, DND bhih flnidng (Hdi chiing Fejemian) flii khdng cd chi djnh diSu tri (Caraballn, 2009). Hdi chujig Sandifer co flilt gip khdng djc hi$u khdng can Xling, kit thiic cdn cd ndn, chim phit tri jn tinh fliin vjn ddng, DND btah flnidng. Nghien cdu (tsi B$nh vi^n Nhi Trung Udng) hdi cdu 82 benh nhin H0i chuing West thdi gian 2002-2004. Da sd khdi b^nh ta 5 fliing, diJn nao dd cd loan nhip cao di«n dii. 34 (41%) binh nhin la hdi chiing DK (2/34 bit sin flii trai, 13/34 hdi nao nhd, 1/34 nid midc, 2/34sauviimmangnao, l/34sd Cling Cli) 48 BN (59%) li can nguyen in. Da diiu tri Vigabatrme (Sabril) cho 20 binh nhin (BN) Uiu 50-100 mg/kg/ngiy; Valproic add (VPA, Depakine) 25-40 mg/kg cho 74 BN, VPA wifli Prednisolone 1-2 mg/kg cho 50 BN. Kit qui diiu tri: hit cdn * 43,996 BN, giim cdn 53,6%,
khd M 2,5% BN (Nmh Thi IJng, 2005).
Diiu tri H.C. West muc dich la cit cdn va DND trd vi btah thiidng. Thudc dilpc liia chpn dau ain li Vigabatiin (Sabrm) bit dau t i 50 mg/kg/ngay ting sau 3-5 ngiy din 125 mg/
%/ngiy chia 2 lan. Neu cdn chiia cit hoan toan kit hop vdi ACTH, DND fliay ddi sau 10 ngiy.
ACTH cat sau 3 tuan, Sabrin tiep tyc 5-6 thing ddi vdi can nguyen an, khdng rd can nguyin;
10-14 thing nhdm triiu chiing. Levetiracetam (Keppra) tdt d mdt s6 BN can nguyen in.
Tien lildng tdt d nhdm khdng cd nguyin nhin. Cic yiu td ddng vai trd khdng tdt cho tiin Iiidng: ddih 3 hidi, cham phit Win tinh thin van ddng, tdn tai dang giit khic niia, DND rdi Idan kio dai, bit thiidng vi than kmh, CT, IVHU, diiu tri kio dii khdng cat diidc ccfn (Covais,1998).
H C West triiu chiing chuyin thanh tii k^, hay LGS. Diiu hj h^i chiing West gan diy nhit Mefliylprednisolone 20 mg/kg trong 3 ngiy, tiip flieo udng Prednisolone ti:ong 2 thing liin giim din, giim con sau 2-6 ngiy. (Joumal of Child Neurology, 25 (8) 948-953) (9,17). 1 sd nhan xit vi sil dung solumedrol trong HC West: hiin qui gan hiong dilang Synacfliene (ACTH) nhUng an toin hdn va gii thanh re hdn rit nhiiu. Hiin tai d VN trin flii tnidng khdng cd ACTH, niu cd till rit dit (4 ttieu ddng 1 lp 40 IU). Phudng phip d t flii chai ddi vdi HC. West h a con 30,6% (49 BN), giim > 80% d 18,4%, giim > 50% d 30,6%
BN khdng cii fliiin«20,4%(Longtemi outcome 6 coipus callosotomy fbr west syndrome report;
Baba Hm Toda K., Japan, 2010).
HOICHdNGDRWEKDS)
DS la mpt trong nhang benh DK giit CO nang.
Website: ho(thankinhhocvietnam.com.vn
S(5l7-QUVlll/2016IIll/tal»ilHgCVltrH«lll ' 4 1
BAO CAO KHOA HOC
dl tmyen d tie con hti. Nam 197S Charlotte Dravet mo ta DK giat cd nang cf tre em (6), sau nay nhieu BS mo ta hangloat BN DS vcfi dot bien gene SC 1 A, nhieu tru'dng hop khac duoc goi ia can DK giat cd nang vi lam sang tiTdng tii, nhiing DND khac nhau, ben tnen nhii vay nhu'ng khong giat cd, mot so BN CO cdn toan the co ciing co giat. Ty le mcfi mac ciia DS 3-6% (Pannnnayiotopoulos, 2007), ty le mac chung 1/40.000 tre em (Hurst,1990).
DS rdl loan gene lien quan den S C N I A (Ciaes, 2001), 70-80% dot bien gene S C N I A 40% gian doan (trucating), 40% hon tap, 20%
hen ket (sphce site) (Marini,201l) Vai BN nii dot bien gene P C D H 1 9 , cung co BN khong co tien sii gia dinh, khong cham phat t n e n tinh than van dong ( D e p i e n n e , 2 0 1 l ) . Co tnicfng hdp dot bien gene GABARG2 va S C N I B (Harkin, 2002).
DS khi con nho phat trien BT roi bi s6t giat phiic hop va kliong sdt cung giat cdn co giat mot ben hoac hai ben hoac cdn run giat va cdn tnJdng kit Mot dang khac tuoi bat dau 1-4 tuoi, giat cd manh khong can xitng hoac can xiing d 80%, cdn nga manh. Co the co cdn vang y thiic khong dac hieu ket hdp vdl DND nhon cham 2-3,5 chu ky/
giay vdl song nen la song cham 50% tmdng hdp cfln cue bg ddn thuan, phiic hdp vdi hoi chiing thifc vat, loai tni co giat tnidng iUc
DND CO hoat ddng nhon, da nhon hay song nhon cham, Hau nhd nhay cam vdi anh sang, nhung duy tri it d 90%. Thudng gap trang thai DK, DND sdng cham lan tda, xen ke nhon va gai nhon. Trong giai doan tien tnen benh, tre rat tang ddng va mat dieu hda cac ddng tac. Rii
"hieu yeu td Anh hudng den benh nhu di tmyen, CO giat, hoat dong cua sdng va thudc kliang D K !
DS khang thuoc, thudc chan ddng ion ch6m chi dinh vi cd che b e n h tdn thiidng den gene S C N I A T h u d c Valproic acid (Depakine), Clobazam, Topiramate, Levetiracetam (Keppra), che d o an kieng sinh c e t o n cd tac dune is vai tru'dng h d p . S t i n p e n t o l ket h d p Valproic acid va C l o b a z a m h o a c T o p i r a m a t e co hieu q u a ( C h i r o n , 2 0 1 0 ) .
TRANG THAI DK GIAT Ctf TRONG BENH NAO KHONG TIEN TRIEN (MSNE)
MSNE dUdc mo ta dau tien bdi Dalla Bemadim (1980). ILAE (2006-2010) cho la trang thai DK giat cd trong benh nao khong tien tiig'n(MSNE) nhli mdt hdi chiing (Engel, 2006 (7); Berg, 2010). Dac diem lam sang la cd giai doan dai co trang thai DK cua giat cd khdng dien hinh \6i vang y thdc khdng dac hieu. Cdn giat cd bdt dau d mat, di chuyen den cac chi va kliong ddngbj va nhip nhang trong khi dang vang y thiic.
T u d i trung binh khdi b e n h la 10 thang (tif 1 ngay den 15 t u d i ) (Dalla Bernadina, 2005), Ty le DK k h a n g t h u o c cua n h d m 0,5 - \%
(Panayiotopoulos, 2010).
T r a n g thai D K giat cd trong benh nao kh6ng tien t n e n lam sang chia lam 3 the dUdi nhom khac nhau ve nguyen nhan, each co giat, DND (Dalla Bernadina, 2002; Caraballo, 2007; Elia, 2 0 0 9 ) .
T h e n h d m mdt: Hoi chu'ng Angelman, Prader-Willi, Woif - Hirschrom ( m i t cinh ngan nhiem sac th^ 4) va H.C. Rett (dot biSn gene M E C P 2). D N D thay hoat ddng sdng theta-delta chiem Uu the d vung trung tam, sdng cham d viing cham, cd nhon khi nhim mat. T r e tang ddng, Ioang choang.
42 THANKINHHOEVIETNAMSOI? QUYIII/2016 Website hoithankinhhocvietnam,com vn
Nh6m hai: NguySn nh^n khdng ro rang, cfi thi c6 hinh anh di t^t nao. GIp da sd d tre gai Lam s4nggi4t cdmanh, v3ji ddnglo^ tnitfogliic cd m^nh. DND video th5y trang thai DKkeo dai ho?t d6ng phong hie nhon d4m chiem xia tiii h o ^ sdng tiieta - delto ifti thg d vung trin d6ng thi hole kh6i^ ddng thi phy diupc vao hinh anh iam s^g. DK dai dang tifin tri&i dgn tudi ldn v6i thi^u nang tinh th3n vgn d0ng nang.
Nhdm ba: Tr^ ch|m phat triln tinh t h ^ v|n d0ng vdi CO giat cd m|L DND kich phit lan tda hai bin c5u hoac phiic hdp song ch^ra.
HSu nhli tift ca cic BN DK khing thudc. Vai tni&ng h(?p dip dng vdl Sodium Valproate kit h($ vdi Ethosuximide (Caraballo, 2007). Hoac Lamotriginevi Levetiracetam (Keppra).
OKGlATCailll£TDl)MG(EIIIIA) (H.C. DOOSE, 1970)
T^ li mSc 1-2% DK tii em. Nguy&n nhin sau sdt cao co gi|t (lS-37%) ho|c cd ti^n sii gia dinh hi DK. Khdi phit tii 2-S tudi, gidi nam/nC Ii 3/1, gip Cf nhiJng trfi tnidc dd Ii binh diiidng, khdng tdn thiicfng trfin nao. Tign tri&i hgnh dii{?c phan ISm 3 giai dopi: Khdi phit tang dSn bSng cic cdn co gi|t nhii cdn Idn xiy ra vio gan vi sing. Cdc ctfn giit cd tryc thin, mit dilng vk ho|c gi4t cd kfem mit diing ngay lip tiic ho|c trong v4i tu5n; ho|c ving y thiic khdng dign hinh (5096). Giai d o ^ "cdn bao DK", sau rai tuin, cic ccfn xuSt hi^n vii lin trong ngiy sau dd t^p h(?p l?i thinh tr?ng thii DK. T r ^ g thii DK gi^t cd khdng dn djnh, die tning bang sii thay ddi khdng hoin toin f thiic, thit digu va ndi khd gin vdi DK khdng dn djnh d cac ehi, mat vi hiu hpng. Giai d o ^ ba li hdi phyc din din
(70%) trong vdng 6 thing den 3 nam sau khi khdi phat benh. Mae du khdi, nhdng 40-dO% tre em cdn cac di chutag ve nhan thiic hgn quan den kha nang sii dung ddng tac va ngdn ngfl. Trong tnidng h ^ tien trien khdng thuan 1^ DK tdn tai dai dang tren 3 nam. Keo dai cic trang thai DK giat cd khdng dn dinh va cac cdn run co cilng vio cudi dem. Cd cic di chiing suy thoii ve nh|n thiic rat n|ng.
Dien nao dd: Binh thiidng d giai doan diu ciia benh, hoat ddng ngn cham lan tda vdi nhjp theta chigm im thg d khu viic tnmg tim dinh.
Cic chiim nhpn sdng ho^c da nhpn sdng 2-3 Hz (chu Ift/giiy) toin thg khdng dgu, ddi khi khdng can xaing tang Ign khi budn ngii. Hoatt ddng ngn ngiy cing chim va bien dd cao (theta, higm han la delta), xen ke cac chiim nhpn sdng ho|c cdc dogn nhpn sdng ch|m toan dig, khdng dgu, Cic bit thiidng tang Ign trong giic ngii vi ddi khi cdc hogt ddng sinh Iy bign mat DND video chi dinh khi cd bign ddi hanh vi (thit digu nang, thit ngdn) dg phit hien trgng thii DK gi^t cd khdng dn dinh.
Digu tri: Valproate (Depakine), Ethosuximide, Lamotrigine (Lamictal), Benzodiazepine thiidng diidc diing trong da tn li?u. Chg dp in sinh ceton diidc khuy&i cdo d giai dogn "bao DK" thiidng cd hi?u qui vi cho phep trinh hoac hgn chS phdi dimg diudc qua diidng dnh mach. Ijgu phip Corticoid diidc Ilia chon trong tnidng hdp trang thrdi DK gi|t cd tii diin. Carbamazepine (Tegretol), Vigabatrin, Phenobaibital (Gacdenal) chdng chi dinh vi chiing lam n|ng Ien, tang tin suit cac cdn hogc thiic dly chuygn thinh trgng thii DK gigt cd.
Cac logiDKgigted tign trign:b^nh cinh Iam sdng phdi hcfp nhli DK todn thi, thoii trign vg
Website: hoithanlAihhocvietnam.com.\m
. a'J<>Ulri;.-WlAUnjni'^^ii:iU";'-"17"ii,i'3.;=]n; V ll
S(5l7-Quyill/2016lliaNKMIIMCHtIMMI ,'43
A BAO CAO KHOA HOC
•5^1
tri tue phdi hdp vdi H C. tieu nao, thap, ngoai thap. Bieu hien DK giat cd trong cac benh: ty the (MELAS - benh nao cd t>' the tang acid lactic nhd tai bien mach mau nao, MERRF - DK giat cd vdi sffi cO dd nham n h d ) ; Benh Ceroid lipofuscinoses (benh ciia tieu the, lang dong sac td md d he than kinh); Benh Lafora.
KET LUAN
DK tre sd smh va nhu nhi la nhdm benh roi loan nao rat da dang xuat hien d giai doan nao dang phat tnen cho nen ve dieu t n rat kho khan, khang thuoc va suy dioai sii phat trien tinh than van ddng, hanh vi chiem ty le cao.
SUMMARY
Chnical characteristic and management of epUepsy in neonatal period and early chUdhood.
Seizure in neonatal penod include: bemngn familial neonatal seizures ( B F N E ) , early myoclonic encephalopathy (EME), epileptic encephalopathies with suppression - burst pattern (Ohtahara syndrome) Infancy period (from 1 month to 3 years): epilepsy of infancy with migrating focal seizures, west syndrome, Dravet syndrome, D o o s e s y n d r o m e , myoclonic encephalopathy in nonprogressive disorders and progressive disorders. Epilepsy m neonatal and early infancy ongoing m the cntical p e n o d of brain maturation are c h a r a c t e n z e d by p h a r m a c o r e s i s t a n t , congnitive dysflmtion or decline occurs in high incidence. This article briefly reviews the most common important clinical issues and management.
Key words, encephalopathy, cogmt.ve dysfcnctlon, a n f e p J e p f c drugs, pharmacores.sta„t ep.lepacss, syndrome Ohtahara.syndrome Dravet, syndrome Doose, syndrome West.
TA] LIEU THAM K H A o
l . A d . a „ a s i o s C o v a „ i s ( 2 0 , 2 ) - £ p J e p t , c e n c e p h a l o p a t h i e s ( , n c l „ d i „ g severe epilepsy syndromes)-.
Epilepsia, 53; 114-126. f i- / / ;
2. Berg AX Engel J., Cross JH, Brodie M. (2010) Report ofthe comnt.ss.on on dass,fica,io„ a.d teonmology: update and recommedat.on. Epdepsia S h 676-685
l ^ 2 T i l : " " T \ * " " ^ ° ° ^ ' ' ' ' * ' ' ^ ' " J ^ ' ^ " ' « " ^ ^ ' ^ " ^ U EC (2006) De-novo mutations ofthe sodium channel Bene SCNIA™ II j
Lancet Neurol 5:488492. '^ " ' " " ' encephalopathy, a retrospective study, 4 . C a r r a n z a R o j o D , S m i o n H a r v e v A f 2 0 l 2 >
caused hv « - M i s ' m f e « » n - related epilepsy syndrome is not causedb,SCNlAmutations.EpilepsyRes 100:194-198
44 nUN KINH HOC VIET NAM
i O 1 7 - Q U Y I I I / 2 0 l 6 Website hoilhankinhhocvielnam.com m
5. Coppola G. (2009) Malignant migrating partial seizures in infiincy: an epilepsy syndrome of miint)wetioIog)r.Epilepsia50(suppL5):49-Sl.
^ 6.Dr»rtC,B„™,„M,OgBoiH,Sdt.,ymaY,CokarO.(2005) Se«.re myoclonic epilepsy in infincyiDravetsyndrome.Adv.Neurol95:71-102.
^ 7.BngdJJr (2006) Report ofthe ILAE Classification Core Group. Epilepsia 47 :1558 - 1568 8. Hden Cross J. (2012).Tever and fever - related epilepsies' Epilepsia,S3:3-8.
9. John R. MyUnger, Mark a n i ^ , William C. Taft, Marda L. Budt »id Robert S. Rnst (2010) Outcomes in Treatment of Infindle Spasms With Pulse Methylprednisolone-J Child Neurol 2010 25:948 originally published online 8 Febmary20I0.
10. Kato M., Satera H.,(2009)-dinical spectrum of ohtahara syndrome caused by STXBPl mutation"
Abstracts of28tiiIntemationaIEpilepsyCongress,p 124.
11. Kramer U, Chi C, l i r « , Nabbout R(201l)Pebnle infecdon-related epilepsy syndrome- pathogenesis, treatment and outcomeamulacenterstudyon 77 children. EpUepsia 52-1956-1965 12. Livingaon JH, Cross JH, Mdellan A. (2009) A novel inherited mutation in die voltage sensor region of SCNIA is associated vnth Panayiotopoulos syndrome in siblings and generalized epilepsy With febrile seizures plus. J Child Neurol 24:503-508.
13. Lombroso CT (1990) Early myoclonic encephalopathy, early epileptic encephalopathy and benign and severe inftntile myoclonic epilepsies : a critical review- and personal contributions. J.Clin Neurophysiol 7:380-408.
14. Ninh n a Ung, Nguyin Ihj HMag (2005) Chnical Characteristics and Therapy of West Syndrome. Epilepsy Vol.46, SuppL6, p.l290.
lS.Ninh Thi tfng(2008).M«ts6 die dilmlSmsJng, cjn lam sang, hinh inh hpc vakft qua dilu tri d«ng kinh khing thu6cStrS em. Tap chi NghiSn Cliu YhpcphutnK»igS7(4): 299-305 16. Ntah •Ihitt,g(2009),L4msangviktt qui diftitrih0ichtogOhtahaia.T,p chi Nhi khoa S64/9:
17.NelsonKB,EU»ibergJH.(l976)Predictors of epilepsy in child«n»ho have experiencedfebrile seizures. N.Engl J Med 295:1029-1033.
18. Rela Lichleniad, EU Heyman (2010). totravenous Methylprednisolone Pulse Therapy in a Young Girl with Intractable Absence Seizures, IMAJ . VOL 12.
19. Shunsuk. Ohtahara, Toko Ohtsuka (1992) • Early inftntile epileptic encephalopathy with suppression - burst", Epileptic syndromes in mfancy, childhood and adolescence; second edition
JohnLibbeyjp2S-35. '
Website:hoilh=nldnhhocvielnam.com.vn S 6 I7-QUV1I1/2016 llHliHBHHHgcneiNMl I 45